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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Ndufv1 - NADH:ubiquinone oxidoreductase core subunit V1
Alias:
CI-51kD
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码NADH-泛醌氧化还原酶(复合物I)酶的一个亚基,这是一个大型的多聚蛋白。它是线粒体电子传递链中的第一个酶复合物,催化电子从NADH转移到电子受体泛醌。电子传递产生的质子梯度驱动ADP转化为ATP。这个基因是核心亚基,在原核生物和真核生物中保守。这个蛋白质的人类正链已经被表征。它具有NADH、黄素单核苷酸和铁硫结合位点的共识基序,并作为复合物I的脱氢酶模块的一部分参与NADH的氧化。在人类中,复合物I的缺陷与肌病、脑肌病和神经退行性疾病有关。[由RefSeq,2013年6月提供]
Related ID:
NCBI:17995
ENSEMBL:ENSMUSG00000037916
UNIPROT:Q91YT0
Basic Information
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Transcripts
Exons
Length
MW (kDa)
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Reference
17995
1
10
5257 bp
50.83
5
9
Ndufv1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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